Results 81 to 90 of about 2,620 (178)
Mitochondrial mislocalization and altered assembly of a cluster of Barth syndrome mutant tafazzins [PDF]
The Journal of Cell Biology, 2006 None of the 28 identified point mutations in tafazzin (Taz1p), which is the mutant gene product associated with Barth syndrome (BTHS), has a biochemical explanation. In this study, endogenous Taz1p was localized to mitochondria in association with both the inner and outer mitochondrial membranes facing the intermembrane space (IMS). Unexpectedly, Taz1p
Claypool, Steven M +2 more
openaire +4 more sources
Journal of Lipid Research, 2008 In this article, the formation of prokaryotic and eukaryotic cardiolipin is reviewed in light of its biological function. I begin with a detailed account of the structure of cardiolipin, its stereochemistry, and the resulting physical properties, and I ...
Michael Schlame
doaj +1 more source
Cranial, Renal, and Skeletal Anomalies in a Fetus With a Pathogenic Variant in the TAFAZZIN Gene. [PDF]
Prenat DiagnABSTRACT Objective To report a case of a fetus with multiple congenital anomalies and suspected Barth syndrome, highlighting potential phenotypic expansion of the syndrome. Methods A 32‐year‐old G4P2011 patient was ...
Muir CR, Gilmore KL, Singh S, Vora NL.
europepmc +3 more sources
Immunometabolic and Spatiotemporal Control of Tissue‐Resident Memory T Cell Biology
Barrier Immunity, Volume 2, Issue 1, Page 6-22, March 2026.Tissue‐resident memory T (TRM) cells in barrier tissues provide a frontline defense against invading pathogens. Immune (Signals 1–3) and nutrient (Signal 4) cues play an integral role in directing TRM formation and heterogeneity. The spatial and temporal organization of these signals establishes durable TRM cells across tissues, enabling diverse ...
Jana L. Raynor, Hongbo Chi
wiley +1 more source
Mitochondrial Transplantation as a Therapeutic Strategy for Inherited Mitochondrial Diseases
Advanced Science, Volume 13, Issue 11, 23 February 2026.Mitochondrial transplantation (MTx) offers a promising therapeutic avenue for mitochondrial diseases. This review comprehensively evaluates MTx, differentiating its feasibility for mtDNA‐ and nDNA‐based disorders. It examines its potential for genetic correction, alongside inherent limitations, technical challenges, and crucial ethical considerations ...
Parmeshar Singh +17 more
wiley +1 more source
, 2022 Tafazzin—an acyltransferase—is involved in cardiolipin (CL) remodeling. CL is associated with mitochondrial function, structure and more recently with cell proliferation. Various tafazzin isoforms exist in humans.
Michael Linnebacher (180341) +11 more
core +1 more source
Deficiency in Cardiolipin Reduces Doxorubicin-Induced Oxidative Stress and Mitochondrial Damage in Human B-Lymphocytes. [PDF]
PLoS ONE, 2016 Cardiolipin (CL) is an inner mitochondrial membrane phospholipid which plays an important role in mitochondrial function. Perturbation in CL biosynthesis alters mitochondrial bioenergetics causing a severe genetic disorder commonly known as Barth ...
Baikuntha Aryal, V Ashutosh Rao
doaj +1 more source
Characterizing the role of tafazzin in allergically activated mast cells
, 2020 Introduction & Aim: Allergic inflammatory diseases are a constantly growing health concern in westernized societies. Mast cells, the driving force behind many allergic diseases, modulate various metabolic pathways to carry out their various functions ...
Maguire, Aindriu
core +1 more source
Tafazzin knockdown and Dox-sensitivity in H9c2 cardiomyocytes.
, 2016 (A) knockdown of tafazzin was confirmed in H9c2 cells after transfection with 20 nM tafazzin siRNA for 48 h by western blot analysis. (B) Representative western blot showing the level of cleaved caspase-3.
Baikuntha Aryal (441940) +1 more
core +1 more source
, 2022 Tafazzin—an acyltransferase—is involved in cardiolipin (CL) remodeling. CL is associated with mitochondrial function, structure and more recently with cell proliferation. Various tafazzin isoforms exist in humans.
Michael Linnebacher (180341) +11 more
core +1 more source